Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022656del , CM000663.2:g.17022656del | GRCh38 |
| NC_000001.10:g.17349151del , CM000663.1:g.17349151del | GRCh37 |
| NC_000001.9:g.17221738del | NCBI36 |
| NG_012340.1:g.36515del , LRG_316:g.36515del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.546del | ENSP00000481376.2:p.Leu183TyrfsTer8 | |
| ENST00000491274.6:c.675del | ENSP00000480482.2:p.Leu226TyrfsTer8 | |
| ENST00000375499.8:c.717del MANE Select | ENSP00000364649.3:p.Leu240TyrfsTer8 | |
| ENST00000375499.7:c.717del | ENSP00000364649.3:p.Leu240TyrfsTer8 | |
| ENST00000475049.5:n.142del | ||
| ENST00000485092.5:n.381del | ||
| ENST00000485515.5:n.651del | ||
| NM_003000.2:c.717del , LRG_316t1:c.717del | NP_002991.2:p.Leu240TyrfsTer8 | |
| NM_003000.3:c.717del MANE Select | NP_002991.2:p.Leu240TyrfsTer8 |